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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 1
2003 1
2005 1
2006 1
2007 1
2008 1
2010 1
2012 1
2014 3
2015 2
2016 2
2017 2
2018 2
2019 1
2020 3
2021 2
2022 1
2024 0

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Page 1
PGD for a carrier of an intrachromosomal insertion using aCGH.
Jones CA, Kolomietz E, Maire G, Vlasschaert M, Joseph-George AM, Myles-Reid D, Chong K, Chitayat D, Arthur R. Jones CA, et al. Among authors: kolomietz e. Syst Biol Reprod Med. 2014 Dec;60(6):377-82. doi: 10.3109/19396368.2014.962710. Epub 2014 Sep 23. Syst Biol Reprod Med. 2014. PMID: 25247722 Review.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Roifman M, Niles KM, MacNeil L, Blaser S, Noor A, Godoy R, van Mieghem T, Ryan G, Seaward G, Sondheimer N, Mercimek-Andrews S, Schulze A, Hewson S, Ovadia A, Chitayat D, Morgen EK, Hojilla C, Kolomietz E, Watkins N, Häberle J, Shannon P. Roifman M, et al. Among authors: kolomietz e. Clin Genet. 2020 Dec;98(6):613-619. doi: 10.1111/cge.13844. Epub 2020 Oct 1. Clin Genet. 2020. PMID: 32888207 Free article.
25 results